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Greig头多指(趾)综合征

Greig cephalopolysyndactyly syndrome.

作者信息

Duncan P A, Klein R M, Wilmot P L, Shapiro L R

出版信息

Am J Dis Child. 1979 Aug;133(8):818-21. doi: 10.1001/archpedi.1979.02130080058010.

Abstract

Based on the family presented and five others previously described, it can be concluded that the Grieg cephalopolysyndactyly syndrome is a fully penetrant autosomal dominant disease consisting of four variably expressed malformations: postaxial polydactyly (type B), preaxial polydactyly, syndactyly, and minor craniofacial abnormalities. This entity can be differentiated from other craniofacial-digital syndromes because of the absence of mental retardation, craniosynostosis, and brachydactyly.

摘要

根据所呈现的这个家系以及之前描述的其他五个家系,可以得出结论:格里格头多指并指综合征是一种完全显性的常染色体显性疾病,由四种表现程度各异的畸形组成:轴后多指(B型)、轴前多指、并指以及轻微的颅面异常。由于不存在智力发育迟缓、颅缝早闭和短指畸形,该病症可与其他颅面-指骨综合征相鉴别。

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